Sunday, March 31, 2013

Happy Easter!

Happy Easter from Owen & Callie! 

Monday, March 25, 2013

Walsh Lab, Boston

Over two years ago I learned about the Christopher A. Walsh Laboratory in Boston.  They research genetic mutations that can alter brain development and lead to malformations like polymicrogyria.  By studying individuals affected with these conditions and identifying the associated genes and their mutations, they learn about the proteins that are important for brain development and hope that this will lead to better options for diagnosis, management and treatment.

The Walsh Lab has a Brain Development and Genetics clinic that evaluates children with a wide range of brain development disorders, including PMG.  The clinic combines their specialties of neurology, genetics, genetic counseling and research to provide a comprehensive approach to working with families impacted by brain malformations.  Shortly after learning about the clinic I started the process of having Callie evaluated, but got side tracked with her weight gain issues and then feeding tube placement and never followed through.  A few months ago I reached out to the Walsh Lab again to set up an appointment, and a couple of weeks ago we finally made the trip.  It was worth it.

Their team was wonderful and met with us for about two hours.  We talked at length with Brenda Barry (genetic counselorand Dr. Anna Poduri (neurologist).  Dr. Chris Walsh then joined us to meet Callie and give us his opinion of her case.  The bottom line is her MRI shows fairly extensive changes with regard to her perisylvian PMG, but clinically she is on the better end of the spectrum with excellent development.  They mentioned the fact that her seizures were controlled immediately (her infantile spasms were controlled within one week with prednisolone) has no doubt contributed to her success.  Good signs include she does not have a drooling problem that is common with her type of PMG, she makes vocalizations, is socially aware, cognitively tuned in, motivated, and her body is not stiff.  These are all common symptoms that she seems to have avoided at this time and indicate she will continue to make progress.  We learned an interesting piece of new information... Callie's MRI imaging is unique in that there are deep 'folds' in the cortex or outer layer of the brain that seem to distort the shape of the ventricles and the corpus callosum.  These infoldings are not common in PMG cases.  They were intrigued by her and invited us to participate in their research studies.

We stayed after our appointment to sign consent forms and provide samples to officially enroll.  They are building a large collection of PMG patients with the goal of sequencing their genomes.  Their plan is to identify key genes that are associated with the condition by comparing genomes of patients and parents with hereditary PMG versus sporatic cases.  This seems like a great resource for our family.  To sequence Callie's genome means they will forever have a genetic profile of her condition.  If they find genes that are altered in Callie, there could be potential for treatment.  This would of course take years, but the pace of things in research is moving exponentially.  Who knows what they can accomplish in Callie's lifetime!  

Dr. Chris Walsh

 Dr. Ann Poduri

Thank you, Aunt Rhine! xoxo

Sunday, March 17, 2013

Almost Spring!

We are so ready for spring!!  There were a few mild days last week and we loved getting outside for some fresh air.  We look forward to many more warm days soon!


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